{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["98(3)"],"submitter":["von Lintig  J"],"pubmed_abstract":["Visual pigments (rhodopsins) are composed of a chromophore (vitamin A derivative) bound to a protein moiety embedded in the retinal membranes. Animals cannot synthesize the visual chromophore de novo but rely on the uptake of carotenoids, from which vitamin A is formed enzymatically by oxidative cleavage. Despite its importance, the enzyme catalyzing the key step in vitamin A formation resisted molecular analyses until recently, when the successful cloning of a cDNA encoding an enzyme with beta,beta-carotene-15,15'-dioxygenase activity from Drosophila was reported. To prove its identity with the key enzyme for vitamin A formation in vivo, we analyzed the blind Drosophila mutant ninaB. In two independent ninaB alleles, we found mutations in the gene encoding the beta,beta-carotene-15,15'-dioxygenase. These mutations lead to a defect in vitamin A formation and are responsible for blindness of these flies."],"journal":["Proceedings of the National Academy of Sciences of the United States of America"],"pagination":["1130-5"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC14720"],"repository":["biostudies-literature"],"pubmed_title":["Analysis of the blind Drosophila mutant ninaB identifies the gene encoding the key enzyme for vitamin A formation invivo."],"pmcid":["PMC14720"],"pubmed_authors":["Kiefer C","Dreher A","Wernet MF","Vogt K","von Lintig  J"],"additional_accession":[]},"is_claimable":false,"name":"Analysis of the blind Drosophila mutant ninaB identifies the gene encoding the key enzyme for vitamin A formation invivo.","description":"Visual pigments (rhodopsins) are composed of a chromophore (vitamin A derivative) bound to a protein moiety embedded in the retinal membranes. Animals cannot synthesize the visual chromophore de novo but rely on the uptake of carotenoids, from which vitamin A is formed enzymatically by oxidative cleavage. Despite its importance, the enzyme catalyzing the key step in vitamin A formation resisted molecular analyses until recently, when the successful cloning of a cDNA encoding an enzyme with beta,beta-carotene-15,15'-dioxygenase activity from Drosophila was reported. To prove its identity with the key enzyme for vitamin A formation in vivo, we analyzed the blind Drosophila mutant ninaB. In two independent ninaB alleles, we found mutations in the gene encoding the beta,beta-carotene-15,15'-dioxygenase. These mutations lead to a defect in vitamin A formation and are responsible for blindness of these flies.","dates":{"release":"2001-01-01T00:00:00Z","publication":"2001 Jan","modification":"2025-04-26T23:35:55.942Z","creation":"2019-03-26T23:45:17Z"},"accession":"S-EPMC14720","cross_references":{"pubmed":["11158606"],"doi":["10.1073/pnas.98.3.1130"]}}